Transfusion-dependent β-thalassemia (TDT) and sickle cell disease (SCD) are severe monogenic diseases with potentially life-threatening manifestations. BCL11A is a transcription factor that represses γ-globin expression fetal hemoglobin in erythroid cells. We performed electroporation of CD34+ hematopoietic stem progenitor cells obtained from healthy donors, CRISPR-Cas9 targeting the erythroid-...

objective(s): β-thalassemia is one of the most common genetic disorders in the world. as one of the promising treatment strategies, fetal hemoglobin (hb f) can be induced. the present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing klf1 binding sites to the k562 cell line. materials and methods: a plasmid containing a 192 bp sequence with two repe...

our previous studies on thalassemia patients, homozygous or compound heterozygous for severe beta thalassemia mutations, has suggested that 5’hs4-lcr and/or xmn1-hbg2 backgrounds, which were linked in our thalassemia patients, are important in determining the blood transfusion dependency of these individuals. while the majority of patients with aa/-- 5’hs4/xmn1 background, were severely depende...

A Beta-talassemia major é uma hemoglobinopatia caracterizada por herança mendeliana haplo-insuficiente recessiva, sendo considerada a forma mais grave das talassemias, os portadores dependem de transfusões sanguíneas regulares e podem desenvolver problemas futuros, devido ao acúmulo ferro ocasionado pelas transfusões. O objetivo do estudo apresentar revisão novos insights sobre o sistema CRISPR...